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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1215",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1213",
"results": [
{
"created": "2021-09-10T10:30:38.858248+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA2.\nTag paediatric-onset tag was added to STR: SCA2.",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2021-09-10T10:29:55.950964+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA17.\nTag paediatric-onset tag was added to STR: SCA17.",
"entity_name": "SCA17",
"entity_type": "str"
},
{
"created": "2021-09-10T10:28:55.836237+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA12.\nTag paediatric-onset tag was added to STR: SCA12.",
"entity_name": "SCA12",
"entity_type": "str"
},
{
"created": "2021-09-10T10:28:05.363827+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA10.",
"entity_name": "SCA10",
"entity_type": "str"
},
{
"created": "2021-09-09T20:33:32.299987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T20:33:32.287003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Green List (High Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T20:33:23.903041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM#610256; Cataract 34, multiple types, MIM#612968; Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM#617349",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T20:33:01.845737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE3 were set to ",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T20:32:43.870322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T19:35:35.101924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9125",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26854927, 27218149, 16826526, 19708017, 20140963, 20664696, 20361012, 24019743, 27669367, 29878917, 32436650, 34046667, 11159941, 19708017, 20806047, 21150893, 11980846, 34046667; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM#610256, Cataract 34, multiple types, MIM#612968, Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM#617349; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:52:34.466340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A1 were changed from to Nephrolithiasis, calcium oxalate, MIM#167030",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:52:16.130035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC26A1 were set to ",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:52:00.184089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC26A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:51:27.554417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A1 as Amber List (moderate evidence)",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:51:27.542479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:51:09.188977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC26A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27210743, 20160351, 30383413, 27125215; Phenotypes: Nephrolithiasis, calcium oxalate, MIM#167030; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:49:22.169363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHAG as ready",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:49:22.159059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhag has been classified as Green List (High Evidence).",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:49:12.329357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHAG were changed from to Anaemia, haemolytic, Rh-null, regulator type MIM# 268150; Overhydrated hereditary stomatocytosis MIM#185000",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:48:51.115636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHAG were set to ",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:48:31.126470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHAG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:47:57.961408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTA1 as ready",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:47:57.946505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spta1 has been classified as Green List (High Evidence).",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:47:48.240216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTA1 were changed from to Elliptocytosis-2 MIM# 130600; Pyropoikilocytosis MIM# 266140; Spherocytosis, type 3 MIM# 270970",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:47:28.272124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTA1 were set to ",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:47:11.501017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:46:41.737362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9115",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9075575, 8018926, 29484404, 27667160, 31333484, 8941647, 3785322; Phenotypes: Elliptocytosis-2 MIM# 130600, Pyropoikilocytosis MIM# 266140, Spherocytosis, type 3 MIM# 270970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:44:06.571850+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHAG as ready",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:44:06.561041+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhag has been classified as Green List (High Evidence).",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:44:04.593380+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHAG were changed from Stomatocytosis; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; 185000 Overhydrated hereditary stomatocytosis; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; 268150 Anemia, hemolytic, Rh-null, regulator type to Anaemia, haemolytic, Rh-null, regulator type MIM# 268150; Overhydrated hereditary stomatocytosis MIM#185000",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:43:54.914698+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHAG were set to 18931342",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:42:34.641002+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC11A2 as ready",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:42:34.631527+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc11a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:42:32.573922+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC11A2 were changed from 206100 Anemia, hypochromic microcytic, with iron overload 1; Anemia, hypochromic microcytic, with iron overload 1, 206100 to Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:42:23.821673+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC11A2 were set to 16160008; 16439678; 15459009",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:41:34.075249+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:41:34.065410+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:41:16.404797+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from Stomatocytosis; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Pyridoxine-refractory sideroblastic anemia to Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885; delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia; haemolytic anaemia",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:41:04.190878+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A1 were set to 22492876; 21791420",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:38:29.608863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTB as ready",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:38:29.598265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptb has been classified as Green List (High Evidence).",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:38:23.760934+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTA1 as ready",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:38:23.750423+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spta1 has been classified as Green List (High Evidence).",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:38:21.363111+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTA1 were changed from 270970 Spherocytosis, type 3; 266140 Pyropoikilocytosis; RBC membrane abnormality; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; 130600 Elliptocytosis-2; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600 to Elliptocytosis-2 MIM# 130600; Pyropoikilocytosis MIM# 266140; Spherocytosis, type 3 MIM# 270970",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:38:10.632335+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTA1 were set to 1679439; 3940543; 4077050",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:37:46.811695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTB were changed from to Spherocytosis, type 2 MIM# 616649; Elliptocytosis-3 MIM# 617948; Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:37:27.709779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTB were set to ",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:37:05.854529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:36:32.680818+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTB as ready",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:36:32.655498+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptb has been classified as Green List (High Evidence).",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:36:30.093048+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTB were changed from 617948 Elliptocytosis-3; Spherocytosis,616649; Anemia, neonatal hemolytic, fatal and near-fatal; RBC membrane abnormality; 616649 Spherocytosis, type 2; 616649 Anemia, neonatal hemolytic, fatal and near-fatal; Elliptocytosis to Spherocytosis, type 2 MIM# 616649; Elliptocytosis-3 MIM# 617948; Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:36:18.707599+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTB were set to 8226774; 3276733",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:35:10.626041+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:35:10.615981+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:35:07.760278+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCN2 were changed from megaloblastic bone marrow; neutropenia; thrombocytopenia; 275350 Transcobalamin II deficiency; Agammaglobulinemia; pancytopenia; neutropenic colitis; failure to thrive; Transcobalamin II deficiency; can have a presentation similar to severe combined immunodeficiency; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow to Transcobalamin II deficiency MIM# 275350; Decreased Ig levels; Megaloblastic anaemia; pancytopaenia; Reticulocytopaenia; failure to thrive; diarrhoea; hypogammaglobulinaemia; pallor; hypotonia; respiratory infection; if untreated (B12) for prolonged periods results in intellectual disability",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:34:56.743092+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCN2 were set to 10518276; 7849710",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:34:11.995988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TF as ready",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:34:11.984774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tf has been classified as Green List (High Evidence).",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:34:02.748740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TF were changed from to Atransferrinaemia MIM# 209300; iron overload; hypochromic anaemia; low serum transferrin; Hemosiderosis of the heart and/or liver; Congestive heart failure",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:33:43.028075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TF were set to ",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:33:22.167895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:32:52.168446+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TF as ready",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:32:52.159008+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tf has been classified as Green List (High Evidence).",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:32:48.804480+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TF were changed from Congenital hypotransferrinemia; Atransferrinemia, 209300; 209300 Congenital hypotransferrinemia to Atransferrinaemia MIM# 209300; iron overload; hypochromic anaemia; low serum transferrin; Hemosiderosis of the heart and/or liver; Congestive heart failure",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:27:24.811247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9109",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21871825, 15459009; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:26:35.418585+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.23",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21871825, 15459009; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:25:17.419507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9109",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30990901, 28470789, 4962358, 18931342, 21849667, 23406318; Phenotypes: Anaemia, haemolytic, Rh-null, regulator type MIM# 268150, Overhydrated hereditary stomatocytosis MIM#185000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:20:00.577826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9109",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19538529, 8102379, 9075575, 7883966, 9005995, 32256302; Phenotypes: Spherocytosis, type 2 MIM# 616649, Elliptocytosis-3 MIM# 617948, Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:16:23.110734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9109",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 11110675, 3472216; Phenotypes: Atransferrinaemia MIM# 209300, iron overload, hypochromic anaemia, low serum transferrin, Hemosiderosis of the heart and/or liver, Congestive heart failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:15:04.891801+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.23",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 11110675, 3472216; Phenotypes: Atransferrinaemia MIM# 209300, iron overload, hypochromic anaemia, low serum transferrin, Hemosiderosis of the heart and/or liver, Congestive heart failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2021-09-09T16:12:29.935024+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.81",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30990901, 28470789, 4962358, 18931342, 21849667, 23406318; Phenotypes: Anaemia, haemolytic, Rh-null, regulator type MIM# 268150, Overhydrated hereditary stomatocytosis MIM#185000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHAG",
"entity_type": "gene"
},
{
"created": "2021-09-09T15:15:34.199207+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.81",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21871825, 15459009; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2021-09-09T14:48:32.431830+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.81",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27353637; Phenotypes: Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885, delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia, haemolytic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2021-09-09T14:01:20.873362+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBD as ready",
"entity_name": "HBD",
"entity_type": "gene"
},
{
"created": "2021-09-09T14:01:20.861349+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbd has been classified as Green List (High Evidence).",
"entity_name": "HBD",
"entity_type": "gene"
},
{
"created": "2021-09-09T14:01:18.744003+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBD were changed from Thalassemia due to Hb Lepore; Thalassemia,delta; Thalassemiadue to HbLepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia, delta to Thalassaemia, delta-; Thalassaemia due to Hb Lepore",
"entity_name": "HBD",
"entity_type": "gene"
},
{
"created": "2021-09-09T14:01:05.122458+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassaemia, delta-, Thalassaemia due to Hb Lepore; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HBD",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:27:59.513322+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBB as ready",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:27:59.502182+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbb has been classified as Green List (High Evidence).",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:27:56.458632+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBB were changed from Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; 613985 Thalassemia, beta; Erythremias, beta-; 603902 Thalassemia-beta, dominant inclusion-body; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; 603902 Dominand inclusion body beta thalassaemia; 603903 Sickle cell disease; 141749 Delta-beta thalassaemia; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; 613985 Beta thalassaemia; Methemoglobinemias, beta- to Thalassemia, beta, MIM# 613985; Sickle cell anaemia, MIM# 603903; Methaemoglobinaemia, beta type, MIM# 617971; Hereditary persistence of fetal haemoglobin, MIM# 141749; Heinz body anaemia, MIM# 140700; Erythrocytosis 6, MIM# 617980",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:27:38.587669+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, beta, MIM# 613985, Sickle cell anaemia, MIM# 603903, Methaemoglobinaemia, beta type, MIM# 617971, Hereditary persistence of fetal haemoglobin, MIM# 141749, Heinz body anaemia, MIM# 140700, Erythrocytosis 6, MIM# 617980; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:25:25.149010+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA2 as ready",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:25:25.139976+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba2 has been classified as Green List (High Evidence).",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:25:23.228081+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBA2 were changed from Hypochromic microcytic anemia; Hemoglobin H disease, nondeletional, 613978; Globin Disorder; 604131 Alpha thalassaemia; Erythrocytosis; 60413 Thalassemia, alpha; Heinz body anemia,140700; Thalassemia, alpha-, 604131 to Thalassemia, alpha-, MIM# 604131; Heinz body anaemia, MIM# 140700; Erythrocytosis 7, MIM# 617981",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:25:09.152845+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131, Heinz body anaemia, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:18:14.019627+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBA1 as ready",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:18:14.010250+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hba1 has been classified as Green List (High Evidence).",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:18:10.763679+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBA1 were changed from Thalassemias, alpha-, 604131; 604131 Thalassemias, alpha; Erythremias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Globin Disorder; 604131 Alpha thalassaemia; Methemoglobinemias, alpha- to Thalassemias, alpha-, MIM# 604131; Heinz body anemias, alpha-, MIM# 140700; Erythrocytosis 7, MIM# 617981",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:17:55.712837+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha-, MIM# 604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:15:17.742797+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSS as ready",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:15:17.731784+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:15:15.166914+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSS were changed from 231900 Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency, 231900; 266130 Glutathione synthetase deficiency; Enzyme Disorder; Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency to Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:15:04.489909+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSS were set to 8896573",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-09-09T13:14:54.733540+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896573, 31198081, 29395598, 29340523, 28267090; Phenotypes: Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-09-09T12:52:03.600125+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; deafness; ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; deafness; ovarian insufficiency",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2021-09-09T12:51:48.432611+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GGPS1: Changed phenotypes: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518, Muscular dystrophy, Deafness, Ovarian insufficiency",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2021-09-09T12:50:25.239117+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2021-09-09T12:49:58.304555+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GGPS1: Changed phenotypes: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518, Muscular dystrophy, Deafness, Ovarian insufficiency",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2021-09-09T12:49:44.127499+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2021-09-09T12:49:17.717745+10:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GGPS1: Changed phenotypes: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518, Muscular dystrophy, Deafness, Ovarian insufficiency",
"entity_name": "GGPS1",
"entity_type": "gene"
}
]
}